Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child

Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child

Background. Proud syndrome is rare inherited disease with X-linked inheritance associated with mutations in the homeobox gene ARX. Typical clinical signs of this syndrome are severe mental retardation, intractable epilepsy, agenesis (dysgenesis) of corpus callosum. Less common features are genital a...

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Main Authors: Anastasiia N. Vertianova, Anna V. Monakhova, Ulyana S. Suraeva, Olga M. Matiasova, Alla Yu. Shutkova, Elena V. Tush, Elena E. Yacishina, Marina A. Suslova, Olga V. Khaletskaya
Format: Article
Language:Russian
Published: Union of pediatricians of Russia 2024-05-01
Series:Педиатрическая фармакология
Subjects:
clinical case
proud syndrome
pharmacoresistant epilepsy
agenesis of corpus callosum
arx mutation
Online Access:https://www.pedpharma.ru/jour/article/view/2455
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